Short-Term Psychological Impact of Predictive Testing for Machado-Joseph Disease: Depression and Anxiety Levels in Individuals at Risk from the Azores (Portugal)

Abstract

Objective: The short-term impact of the pre-symptomatic genetic test (PT) for Machado-Joseph disease (MJD) in the Azores (Portuguese Islands) was assessed in 46 individuals at risk who completed the PT Program. Methods: Scores for depression and anxiety were used as indicators of the subjects’ emotional status immediately before the PT and 1 year after disclosure of the results. Results: Global levels of participation in the Azorean PT Program for MJD were high (20.7%), particularly in Flores Island (35.8%). For the total sample, mean scores of depression and anxiety before and after the PT presented without clinical significance. No differences were found for depression and anxiety scores before and after the PT. Furthermore, when grouped by test results (carriers/non-carriers), there were no differences between pre- and post-test levels. Conclusions: Results indicate that the test result did not cause a decrease in the psychological well-being of the individuals tested. The high number of participants performing the PT in the small and isolated community of Flores Island, where MJD represents a source of stigma, was interpreted as an indication that in this particular population the PT offers the individuals at risk the possibility of liberating from a stigma, and, hence, from exclusion.

Psychological Well-Being and Family Satisfaction Levels Five Years After Being Confirmed as a Carrier of the Machado-Joseph Disease Mutation

“…Table 1 presents baseline sociodemographic data of participants in the study (N = 47). The majority of subjects were women (61.7%; 29/47), whose over-representation in the group of testees had already been reported in our previous work (Gonzalez et al, 2004). The analysis of the age distribution of subjects (average of 39.0 -13.4 [standard deviation, SD] years) indicates that the majority of the individuals belong to age groups 1 and 2 (20-30 years and 31-40 years of age, respectively).…”

“…A longterm follow-up is offered to all testees, as part of the test procedure. In the Azores, the PT and GC program has been conducted since 1996 by a local multidisciplinary team (Lima et al, 2001;Gonzalez et al, 2004). A component of this program has the main purpose of evaluating, in molecularly confirmed carriers of the MJD mutation, the psychological well-being, the individual and familial representations of the disease, as well as the family dynamics.…”

“…A component of this program has the main purpose of evaluating, in molecularly confirmed carriers of the MJD mutation, the psychological well-being, the individual and familial representations of the disease, as well as the family dynamics. In the first study concerning the impact of PT for MJD in the Azores, one of the main motives reported by testees for undertaking the test (Gonzalez et al, 2004) was the reduction of uncertainty (of being or not being a carrier). The analysis of the short-term impact (first-year follow-up) of the PT for MJD provided measures of depression and anxiety which were not clinically significant (Gonzalez et al, 2004).…”

“…In the first study concerning the impact of PT for MJD in the Azores, one of the main motives reported by testees for undertaking the test (Gonzalez et al, 2004) was the reduction of uncertainty (of being or not being a carrier). The analysis of the short-term impact (first-year follow-up) of the PT for MJD provided measures of depression and anxiety which were not clinically significant (Gonzalez et al, 2004). The aim of the present work was to assess, in subjects that *5 years prior received an unfavorable (carrier) result in the PT: (1) the psychological well-being; (2) familial satisfaction and occurrence of familial changes; and (3) the role played by a number of factors, such as presence of symptoms, in the general psychological wellbeing and familial satisfaction.…”

Non-Mendelian Genetic Aspects in Spinocerebellar Ataxias (SCAS): The Case of Machado-Joseph Disease (MJD)

“…The program of PT and GC, available for MJD in Portugal since the end of 1995, was based on the previous experience with Huntington's disease (HD) (Sequeiros, 1996). This program is ongoing in the Azores since 1996, and its impact in patients and families is periodically revised (Gonzalez et al, 2004;Lima et al, 2001). …”